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Results: 1-6 |
Results: 6

Authors: Mahieu-Caputo, D Sonigo, P Amiel, J Simon, I Aubry, MC Lemerrer, M Delezoide, AL Gigarel, N Dommergues, M Dumez, Y
Citation: D. Mahieu-caputo et al., Prenatal diagnosis of sporadic Apert syndrome: A sequential diagnostic approach combining three-dimensional computed tomography and molecular biology, FETAL DIAGN, 16(1), 2001, pp. 10-12

Authors: Amiel, J Gigarel, N Benacki, A Benit, P Valnot, I Parfait, W Von Kleist-Retzow, JC Raclin, V Hadj-Rabia, S Dumez, Y Rustin, P Bonnefont, JP Munnich, A Rotig, A
Citation: J. Amiel et al., Prenatal diagnosis of respiratory chain deficiency by direct mutation screening, PRENAT DIAG, 21(7), 2001, pp. 602-604

Authors: Delettre, C Lenaers, G Griffoin, JM Gigarel, N Lorenzo, C Belenguer, P Pelloquin, L Grosgeorge, J Turc-Carel, C Perret, E Astarie-Dequeker, C Lasquellec, L Arnaud, B Ducommun, B Kaplan, J Hamel, CP
Citation: C. Delettre et al., Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy, NAT GENET, 26(2), 2000, pp. 207-210

Authors: Gagnadoux, MF Attie, T Amiel, J Gigarel, N Bonnefont, JP Munnich, A Gubler, MC Antignac, C
Citation: Mf. Gagnadoux et al., Prenatal diagnosis in autosomal recessive polycystic kidney disease, ARCH PED, 7(9), 2000, pp. 942-947

Authors: Ray, PF Gigarel, N Bonnefont, JP Attie, T Hamamah, S Frydman, N Vekemans, M Frydman, R Munnich, A
Citation: Pf. Ray et al., First specific preimplantation genetic diagnosis for ornithine transcarbamylase deficiency, PRENAT DIAG, 20(13), 2000, pp. 1048-1054

Authors: Valnot, I Osmond, S Gigarel, N Mehaye, B Amiel, J Cormier-Daire, V Munnich, A Bonnefont, JP Rustin, P Rotig, A
Citation: I. Valnot et al., Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy, AM J HU GEN, 67(5), 2000, pp. 1104-1109
Risultati: 1-6 |